| Variant ID | 20217 |
|---|---|
| Entrez Gene ID | 8774 |
| Gene | NAPG (GeneCards) |
| Location | hg19 18:10546139-10546139
hg38 18:10546142-10546142 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.10546139 G>C (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0517 |
| CADD Raw score (version 1.3) | -0.169124 (Deleterious) |
| FATHMM raw prediction score | 0.16941 (Tolerated) |
| Deleterious probability by DeFine | 0.4237 (Neutral) |
| Entrez Gene ID | 8774 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NAPG (GeneCards) |
| Number of variants in NAPG in this database | 1 (view all the variants) |
| Full name | NSF attachment protein gamma |
| Band | 18p11.22 |
| Other IDs | Vega: OTTHUMG00000179119 OMIM: 603216 HGNC: HGNC:7642 Ensembl: ENSG00000134265 |
| Other names | GAMMASNAP |
| Summary | This gene encodes soluble NSF attachment protein gamma. The soluble NSF attachment proteins (SNAPs) enable N-ethyl-maleimide-sensitive fusion protein (NSF) to bind to target membranes. NSF and SNAPs appear to be general components of the intracellular membrane fusion apparatus, and their action at specific sites of fusion must be controlled by SNAP receptors particular to the membranes being fused. The product of this gene mediates platelet exocytosis and controls the membrane fusion events of this process.[provided by RefSeq, Dec 2008] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |